Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.S142_P144delFs
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LDLR

NM_000527.5:p.S142_P144delFs

Associated Papers

Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.

Di Taranto MD et al.

Clinical Genetics, 2021

An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations.

Romano M et al.

Journal of Lipid Research, 2011

Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy.

Romano M et al.

Atherosclerosis, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."